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Mission Statement
The Human Genetics Resource Center
Neurogenetics Group Personnel
Genetic methodologies are having a rapidly increasingly impact on studies of the normal and diseased nervous system. To date, more than 200 genes have been identified that cause or contribute to neurological disorders. It is essential that neuroscientists exploit the power of modern molecular genetics and use the information becoming available from sequencing of the human genome. The Neurogenetics Cluster will:
Identifying genes that, when mutated, cause neurological disorders will permit improved diagnosis and ultimately treatment of these disorders. We will coordinate the collection of family data required to identify disease genes, and encourage exploratory research that utilizes this data for gene discovery.
Once disease genes are identified, the challenge is to determine how mutations in these genes lead to disease. We will encourage the development of animal models for studying pathways of gene function, investigating how these pathways are disrupted by genetic alterations, and ultimately for testing therapeutic interventions.
The nervous system presents unique problems for gene therapy and the development of drugs targeted to specific gene products. Among the most pressing are introducing genes across the blood-brain barrier, targeting gene expression to specific brain regions, and promoting sustained gene expression. We will coordinate research in these areas, and promote the identification of molecular targets for pharmacological intervention.
It is critical that recent advances in genetic technology be made widely available to the neuroscientific community. We will promote the development of gene expression maps of the brain, novel mutagenesis and phenotyping strategies, functional genomic methodologies, and more powerful techniques for linkage analysis of multigenic diseases.
Increased knowledge of the genetic basis of neural development and function will provide a foundation for progress in all the areas described above. We will foster research involving the genetic mechanisms that control neural development, including pattern formation, cell migration, axon guidance, and related processes. We will also promote the investigation of the genetic underpinnings of behavior and cognition, including sleep, learning, memory, and emotion.
The Human Genetics Resource Center: DNA and Cell Line Repository
The NINDS Human Genetics Resource Center at the Coriell Institute is a growing bank for human cells, DNA samples, clinical data, and information sources, to accelerate
research on genetics of disorders of the nervous system. Its mission is to provide genetics support for scientists investigating
pathogenesis in the central and peripheral nervous networks and information support for patients, families, and advocates
concerned with the living-side of neurological disease and stroke. More...
NINDS Muscular Dystrophy Page
Muscular Dystrophy Coordinating Committee (MDCC)
Workshops and Summaries
Second NINDS-DMRF Workshop on Dystonia Recent Advances and Future Directions June 6-7, 2006
Ataxia-Telangiectasia Clinical Research Workshop March 10-11, 2006
Hydrocephalus: Myths, New Facts, Clear Directions September 29 - October 1, 2005
Second Scientific Workshop on Neurodegeneration with Brain Iron Accumulation May 19-20, 2005
Down Syndrome: Toward Optimal Synaptic Function and Cognition February 13-15, 2005
Workshop on Protein - Protein Interaction Maps for the Mammalian Nervous System November 17-18, 2004
Drug Screening for Ataxia-Telangiectasia October 8, 2004
The Glycoproteinoses: An International Workshop on Advances in Pathogenesis and Therapy April 7-8, 2004
Genetic Testing for Parkinson's Disease and Related Disorders Minutes March 13, 2004
Hereditary Dysautonomias: Current Knowledge and Collaborations for the Future October 3 - 4, 2002
The Mucopolysaccharidoses: Therapeutic Strategies for the Central Nervous System September 24 - 25, 2002
New Perspectives In Tuberous Sclerosis Complex September 19 - 22, 2002
Future Research Directions in Joubert Syndrome June 27 - 28, 2002
First Symposium on Pediatric Neurotransmitter Diseases May 17 - 19, 2002
Neurology of Disease in Children: Neurofibromatosis October 16, 2001
The Role of DNA Damage Response Defects in Neurogenetic Diseases: Working Group Meeting July 29 - August 1, 2001
Workshop on Classification and Definition of Disorders Causing Hypertonia in Childhood April 22-24, 2001
DMRF/NINDS Dystonia Workshop January 19-21, 2001
Workshop on Perinatal and Childhood Stroke September 18-19, 2000
Developmental Cerebral Blood Flow and Metabolism Symposium June 8-11, 2000
The First Scientific Workshop of Hallervorden-Spatz Syndrome May 19-20, 2000
Theraputic Approaches for Duchenne Muscular Dystrophy May 15-17, 2000
The Cause and Treatment of Facioscapulohumeral Muscular Dystrophy May 8-9, 2000
Defining the Future of Neurofibromatosis Research May 4-5, 2000
Brain Uptake and Utilization of Fatty Acids: Applications to Peroxisomal Biogenesis Diseases March 2-4, 2000
The Dopamine Connection Workshop November 10-11, 1999
Near Infrared Spectroscopy (NIRS) for Infant Cerebral Function Monitoring May 18, 1999
Batten Disease: Basic Biology and Therapy April 1-2, 1999
Near Infrared Spectroscopy in Infants and Children September 25-26, 1997
Neurogenetics
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